Linked Data
ClinVar Variation Id:
533605
dbSNP Id:
rs781917512
ExAC:
X:153588833 C / T
gnomAD v2:
X-153588833-C-T
gnomAD v3:
X-154360465-C-T
gnomAD v4:
X-154360465-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154360465C>T , CM000685.2:g.154360465C>T | GRCh38 |
| NC_000023.10:g.153588833C>T , CM000685.1:g.153588833C>T | GRCh37 |
| NC_000023.9:g.153242027C>T | NCBI36 |
| NG_011506.1:g.19174G>A | |
| NG_011506.2:g.19174G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.3330G>A | ENSP00000353467.4:p.Ala1110= | |
| ENST00000369850.10:c.3330G>A MANE Select | ENSP00000358866.3:p.Ala1110= | |
| ENST00000369856.8:c.3249G>A | ENSP00000358872.4:p.Ala1083= | |
| ENST00000422373.6:c.3160+890G>A | ENSP00000416926.2:n.3160+890G>A | |
| ENST00000610817.5:c.3387G>A | ENSP00000480593.2:n.3387G>A | |
| ENST00000673639.2:c.279+4971G>A | ||
| ENST00000676696.1:c.3609G>A | ENSP00000503392.1:n.3609G>A | |
| ENST00000344736.8:c.3330G>A | ENSP00000358863.3:p.Ala1110= | |
| ENST00000360319.8:c.3330G>A | ENSP00000353467.4:p.Ala1110= | |
| ENST00000369850.7:c.3330G>A | ENSP00000358866.3:p.Ala1110= | |
| ENST00000369856.7:c.3249G>A | ENSP00000358872.4:p.Ala1083= | |
| ENST00000420627.5:c.3286G>A | ENSP00000408921.1:n.3286G>A | |
| ENST00000422373.5:c.3330G>A | ENSP00000416926.1:p.Ala1110= | |
| ENST00000610817.4:c.3249G>A | ENSP00000480593.1:p.Ala1083= | |
| NM_001110556.1:c.3330G>A | NP_001104026.1:p.Ala1110= | |
| NM_001456.3:c.3330G>A | NP_001447.2:p.Ala1110= | |
| XM_011531127.1:c.3330G>A | XP_011529429.1:p.Ala1110= | |
| XM_011531128.1:c.3330G>A | XP_011529430.1:p.Ala1110= | |
| XM_011531129.1:c.3330G>A | XP_011529431.1:p.Ala1110= | |
| XM_011531130.1:c.3330G>A | XP_011529432.1:p.Ala1110= | |
| XM_011531131.1:c.3129G>A | XP_011529433.1:p.Ala1043= | |
| NM_001110556.2:c.3330G>A MANE Select | NP_001104026.1:p.Ala1110= | |
| NM_001456.4:c.3330G>A | NP_001447.2:p.Ala1110= |